DEFB106A Gene
protein-coding GIFtS: 40
GCID: GC08P007682
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defensin, beta 106A(Previous names: defensin, beta 106 ) (Previous symbol: DEFB106)
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Aliases for DEFB106A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Defensin, Beta 106A1 2 | | BD-62 3 | | DEFB-61 2 3 | | Beta-Defensin 1062 | | DEFB1061 2 3 | | Defensin, Beta 62 | | Defensin, Beta 1061 3 | | BD63 | | Beta-Defensin 62 3 | | DEFB63 |
Export aliases for DEFB106A gene to outside databasesPrevious GC identifers: GC08M007328 GC08P007721 |
Summaries for DEFB106A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for DEFB106A: Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processedpeptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins andtheta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions.Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in twoidentical copies of defensin, beta 106, DEFB106A and DEFB106B, in head-to-head orientation. This gene, DEFB106A,represents the more centromeric copy. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: D106A_HUMAN, Q8N104Function: Has antibacterial activity Gene Wiki entry for DEFB106A
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Genomic Views for DEFB106A gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000008.10 NC_018919.1 NT_077531.4
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the DEFB106A gene promoter: Pbx1a HSF1 (long) CUTL1 HNF-1A c-Ets-1 AREB6 POU2F1 POU2F1a HNF-1 HSF1short Other transcription factors
Search SABiosciences Chromatin IP Primers for DEFB106A
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB106A |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 8p23.1 Ensembl cytogenetic band: 8p23.1 HGNC cytogenetic band: 8p23.1DEFB106A Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 8 GeneLoc Exon Structure GeneLoc location for GC08P007682: view genomic region
(about GC identifiers)
Start:
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7,682,694 bp from pter |
End:
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7,686,575 bp from pter |
Size:
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3,882 bases |
Orientation:
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plus strand |
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Proteins for DEFB106A gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: D106A_HUMAN, Q8N104 (See
protein sequence)Recommended Name: Beta-defensin 106 precursor Size: 65 amino acids; 7369 Da
Subcellular location: Secreted
Secondary accessions: Q2NKR0 Q496I8Explore the universe of human proteins at neXtProt for DEFB106A: NX_Q8N104
DEFB106A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_689464.1 ENSEMBL proteins: ENSP00000335307 Reactome Protein details: Q8N104 Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0005576 | extracellular region |
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DEFB106A for ontologies About GeneDecksing
DEFB106A Antibody Products: Assay Products for DEFB106A: |
Protein
Domains / Families for DEFB106A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DEFB106A for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q8N104ProtoNet protein and cluster: Q8N104 UniProtKB/Swiss-Prot: D106A_HUMAN, Q8N104Similarity: Belongs to the beta-defensin family |
Function for DEFB106A gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: D106A_HUMAN, Q8N104Function: Has antibacterial activity
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB106A OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB106A OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: DEFB106A (NM_152251) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DEFB106A | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB106A  |
|
Pathways & Interactions for DEFB106A gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways  About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
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| 1 | Beta defensins | | | 2 | Immune System | |
Pathway sources See GeneCards unified pathways Show all pathways
5/6
Reactome Pathways for DEFB106A (see all 6)
DEFB106A for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFB106A
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0042742 | defense response to bacterium |
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DEFB106A for ontologies About GeneDecksing
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Drugs & Compounds for DEFB106A gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
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Browse Tocris compounds for DEFB106A Search CenterWatch for drugs/clinical trials and news about DEFB106A / D106A 
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Transcripts for DEFB106A gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for DEFB106A gene: NM_152251.3 Unigene Cluster for DEFB106A: Defensin, beta 106A Hs.535925 [show with all ESTs]Unigene Representative Sequence: NM_1522511 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000335186(uc003wru.1)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB106A OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB106A OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: DEFB106A (NM_152251) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DEFB106A | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB106A  |
2 DOTS entries: DT.100018508 DT.121491104 9 AceView cDNA sequences: AF540978 AB089181 NM_152251 BX104316 AF529417 AI910580 AW103145 AY122466 AW087602 GeneLoc Exon Structure
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Expression for DEFB106A gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| DEFB106A expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: --
About this image See DEFB106A Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for DEFB106A
SOURCE GeneReport for Unigene cluster: Hs.535925 UniProtKB/Swiss-Prot: D106A_HUMAN, Q8N104Tissue specificity: Expressed specifically in epididymis and lung SABiosciences Custom PCR Arrays for DEFB106A
Primer Products: |  | Browse OriGene genome-wide validated SYBR primer pairs Browse OriGene validated miRNA SYBR primer pairs
| |  | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat DEFB106A | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFB106A | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFB106A |
Orthologs for DEFB106A gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
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ENSEMBL Gene Tree for DEFB106A (if available) TreeFam Gene Tree for DEFB106A (if available)  |
Paralogs for DEFB106A gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for DEFB106A gene
- DEFB106B1 2
7 SIMAP similar genes for DEFB106A using alignment to 1 protein entry: D106A_HUMAN:DEFB109P1 DEFB109P1B DEFB108B DEFB108P1 DEFB108P2 DEFB135 DEFB134
DEFB106A for paralogs About GeneDecksing
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Genomic Variants for DEFB106A gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
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| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 8 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for DEFB106A (7682694 - 7686575 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 38 variations for DEFB106A 15/30 CNVs (see all 30): 70261 70259 0734 8593 0736 34519 2119 70271 31424 7702 65046 9081 52607 52617 0733 8 Inversions: 37309 37307 37308 37304 37305 37306 37310 37303  | SABiosciences Cancer Mutation PCR Assays |
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Disorders
/ Diseases for DEFB106A gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
DEFB106A for disorders About GeneDecksing
1 disease for DEFB106A: About MalaCardsazoospermia Human Genome Epidemiology (HuGE) Navigator: DEFB106A (1 document) Export disorders for DEFB106A gene to outside databases
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Publications for DEFB106A gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for DEFB106A gene, integrated from 9 sources (see all 14): (articles sorted by number of sources associating them with DEFB106A) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Discovery of five conserved beta-defensin gene clusters using a computational search strategy. (PubMed id 11854508)1, 2, 3 Schutte B.C.... McCray P.B. Jr. (2002)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- ORFeome-based search of airway epithelial cell-specific novel human [beta]-defensin genes. (PubMed id 12600824)1, 2 Kao C.Y....Wu R. (2003)
- Duplication and selection in the evolution of primate beta-defensin genes. (PubMed id 12734011)1, 2 Semple C.A.M.... Dorin J.R. (2003)
- Identification of multiple novel epididymis-specific beta-defensin isoforms in humans and mice. (PubMed id 12193721)1, 2 Yamaguchi Y.... Ouchi Y. (2002)
- Copy number variation of defensin genes and HIV infection in Brazilian children. (PubMed id 19194307)1 Milanese M....Crovella S. (2009)
- Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract. (PubMed id 16033865)1 Patil A.A.... Zhang G. (2005)
- Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence. (PubMed id 15588320)1 Taudien S....Platzer M. (2004)
- Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution. (PubMed id 15727258)1 Boniotto M....Gallagher G. (2004)
- Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. (PubMed id 12916016)1 Hollox E.J....Barber J.C. (2003)
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External Searches for DEFB106A gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing DEFB106A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing DEFB106A gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DEFB106A gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for DEFB106A | Pharmacogenomics, SNPs, Pathways |
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About This Section
| Patent Information for DEFB106A gene: Search GeneIP for patents involving DEFB106A
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for DEFB106A gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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